Canonical Allele Identifier: CA2641066976

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337473-C-CAATACCATGTCCAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337473_12337474insAATACCATGTCCAATA , CM000680.2:g.12337473_12337474insAATACCATGTCCAATA	GRCh38
NC_000018.9:g.12337472_12337473insAATACCATGTCCAATA , CM000680.1:g.12337472_12337473insAATACCATGTCCAATA	GRCh37
NC_000018.8:g.12327472_12327473insAATACCATGTCCAATA	NCBI36
NG_023361.1:g.44803_44804insTATTGGACATGGTATT , LRG_666:g.44803_44804insTATTGGACATGGTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1638_*1639insTATTGGACATGGTATT (AFG3L2)	ENSP00000508998.1:n.*1638_*1639insTATTGGACATGGTATT
ENST00000687477.1:n.578_579insTATTGGACATGGTATT (AFG3L2)
ENST00000688199.1:c.1904_1905insTATTGGACATGGTATT (AFG3L2)	ENSP00000510237.1:p.Asp636IlefsTer15
ENST00000691179.1:c.1967_1968insTATTGGACATGGTATT (AFG3L2)	ENSP00000509010.1:p.Asp657IlefsTer15
ENST00000691970.1:c.*1419_*1420insTATTGGACATGGTATT (AFG3L2)	ENSP00000508440.1:n.*1419_*1420insTATTGGACATGGTATT
ENST00000692497.1:c.*472_*473insTATTGGACATGGTATT (AFG3L2)	ENSP00000509870.1:n.*472_*473insTATTGGACATGGTATT
ENST00000692988.1:n.1860_1861insTATTGGACATGGTATT (AFG3L2)
ENST00000269143.8:c.2042_2043insTATTGGACATGGTATT (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp682IlefsTer15
ENST00000269143.7:c.2042_2043insTATTGGACATGGTATT (AFG3L2)	ENSP00000269143.2:p.Asp682IlefsTer15
ENST00000586691.1:c.88-6576_88-6575insAATACCATGTCCAATA (TUBB6)
NM_006796.2:c.2042_2043insTATTGGACATGGTATT , LRG_666t1:c.2042_2043insTATTGGACATGGTATT (AFG3L2)	NP_006787.2:p.Asp682IlefsTer15
XM_011525601.1:c.1841_1842insTATTGGACATGGTATT (AFG3L2)	XP_011523903.1:p.Asp615IlefsTer15
XM_011525601.3:c.1841_1842insTATTGGACATGGTATT (AFG3L2)	XP_011523903.1:p.Asp615IlefsTer15
XR_002958227.1:n.451+571_451+572insAATACCATGTCCAATA
NM_006796.3:c.2042_2043insTATTGGACATGGTATT (AFG3L2) MANE Select	NP_006787.2:p.Asp682IlefsTer15